UNSPECIFIED (2001) MECP2 gene mutation analysis in the British and Italian Rett Syndrome patients: hot spot map of the most recurrent mutations and bioinformatic analysis of a new MECP2 conserved region. In: yorld Congress on Rett Syndrome, JUL 24-27, 2000, KARUIZAWA, JAPAN.

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Abstract

Rett syndrome (RTT) is an X-linked dominant neurological disorder, which appears to be the most common genetic cause of profound combined intellectual and physical disability in Caucasian females. This syndrome has been associated with mutations of the MECP2 gene, a transcriptional repressor of unknown target genes. We report a detailed mutational analysis of a large cohort of RTT patients from the UK and Italy. This study has permitted us to produce a hot spot map of the mutations identified. Bioinformatic analysis of the mutations, taking advantage of structural and evolutionary data, leads us to postulate the existence of a new functional domain in the MeCP2 protein, conserved among brain-specific regulatory factors. (C) 2001 Elsevier Science B.V. All rights reserved.

Item Type:	Conference Item (UNSPECIFIED)
Subjects:	R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Journal or Publication Title:	BRAIN & DEVELOPMENT
Publisher:	ELSEVIER SCIENCE BV
ISSN:	0387-7604
Date:	2001
Number:	Suppl. 1
Number of Pages:	5
Page Range:	S246-S250
Publication Status:	Published
Title of Event:	yorld Congress on Rett Syndrome
Location of Event:	KARUIZAWA, JAPAN
Date(s) of Event:	JUL 24-27, 2000
URI:	http://wrap.warwick.ac.uk/id/eprint/11327

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